Linked Data
ClinVar Variation Id:
2149601
ClinVar RCV Id:
RCV003065565
dbSNP Id:
rs761297017
ExAC:
16:4390994 GGA / G
gnomAD v2:
16-4390994-GGA-G
gnomAD v3:
16-4340993-GGA-G
gnomAD v4:
16-4340993-GGA-G
MyVariant Identifiers:
chr16:g.4390995_4390996del (hg19)
chr16:g.4340995_4340996del (hg38)
chr16:g.4340994_4340995del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4340997_4340998del , CM000678.2:g.4340997_4340998del | GRCh38 |
| NC_000016.9:g.4390998_4390999del , CM000678.1:g.4390998_4390999del | GRCh37 |
| NC_000016.8:g.4330999_4331000del | NCBI36 |
| NG_016391.1:g.13774_13775del | |
| NG_016391.2:g.31237_31238del | |
| NG_054893.1:g.15378_15379del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318059.8:c.226-10_226-9del (PAM16) MANE Select | ENSP00000315693.3:n.226-10_226-9del | |
| ENST00000318059.7:c.226-10_226-9del (PAM16) | ENSP00000315693.3:n.226-10_226-9del | |
| ENST00000571178.1:c.200-10_200-9del (PAM16) | ||
| ENST00000571941.5:c.286-10_286-9del (PAM16) | ENSP00000460708.1:n.286-10_286-9del | |
| ENST00000571986.5:c.*119-10_*119-9del (PAM16) | ENSP00000459802.1:n.*119-10_*119-9del | |
| ENST00000572274.1:n.628-10_628-9del (CORO7-PAM16) | ||
| ENST00000572467.5:c.2995-10_2995-9del (CORO7-PAM16) | ENSP00000460885.1:n.2995-10_2995-9del | |
| ENST00000573236.5:n.482-10_482-9del (PAM16) | ||
| ENST00000573450.5:n.359-10_359-9del (PAM16) | ||
| ENST00000573553.5:c.286-10_286-9del (PAM16) | ENSP00000459955.1:n.286-10_286-9del | |
| ENST00000573614.5:n.430-10_430-9del (PAM16) | ||
| ENST00000575334.5:c.*1521-10_*1521-9del (CORO7-PAM16) | ENSP00000458607.1:n.*1521-10_*1521-9del | |
| ENST00000575636.5:c.*119-10_*119-9del (PAM16) | ENSP00000458914.1:n.*119-10_*119-9del | |
| ENST00000575848.5:c.262-10_262-9del (PAM16) | ENSP00000458412.1:n.262-10_262-9del | |
| ENST00000576217.1:c.226-10_226-9del (PAM16) | ENSP00000461047.1:n.226-10_226-9del | |
| ENST00000577031.5:c.226-10_226-9del (PAM16) | ENSP00000459113.1:n.226-10_226-9del | |
| NM_001201479.1:c.2995-10_2995-9del (CORO7-PAM16) | NP_001188408.1:n.2995-10_2995-9del | |
| NM_016069.9:c.226-10_226-9del (PAM16) | NP_057153.8:n.226-10_226-9del | |
| NM_016069.10:c.226-10_226-9del (PAM16) | NP_057153.8:n.226-10_226-9del | |
| NM_016069.11:c.226-10_226-9del (PAM16) MANE Select | NP_057153.8:n.226-10_226-9del | |
| NM_001201479.2:c.2995-10_2995-9del (CORO7-PAM16) | NP_001188408.1:n.2995-10_2995-9del |